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Summary

Isoform:
Position:
306
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
LRRK2, EP300

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Best loss of PTM site:

PRKCB (probability p=0.939)
Site: 304T (phosphorylation)
Position in motif: 2
There is 1 other predicted loss:
  • PRKCA (p=0.926)

PTM Site: 305K

Affected site:

Position: 305
Residue: K
Type: acetylation, ubiquitination

Impact:

proximal

PTM Site: 312T

PTM Site: 313S

Affected site:

Position: 313
Residue: S
Type: phosphorylation

Impact:

distal

External references

dbSNP:

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